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	kartagener syndrome

Disease ID	621
Disease	kartagener syndrome
Definition	An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.
Synonym	bronchiectasis, chronic sinusitis and dextrocardia syndrome bronchiectasis, polynesian ciliary dyskinesia, primary dextrocardia, bronchiectasis, and sinusitis dextrocardia-bronchiectasis-sinusitis syndrome dyskinesia, primary ciliary ics kartagener syndrome (disorder) kartagener syndrome [disease/finding] kartagener triad kartagener's syndrome kartagener's syndromes kartagener's triad kartageners syndrome kartageners triad pcd polynesian bronchiectases polynesian bronchiectasis siewert syndrome sinusitis-bronchiectasis-situs inversus syndrome syndrome, kartagener syndrome, kartagener's syndrome, siewert
Orphanet	ORPHANET:98861
OMIM	OMIM:244400
DOID	DOID:0050144 DOID:9563
UMLS	C0022521
MeSH	D007619
SNOMED-CT	SNOMEDCT_US_2016_09_01:42402006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:25) C0021359 \| infertility \| 3 C0017668 \| focal segmental glomerulosclerosis \| 2 C0242379 \| lung cancer \| 2 C0006267 \| bronchiectasis \| 2 C0003864 \| arthritis \| 1 C0235618 \| proliferative glomerulonephritis \| 1 C0006384 \| bundle branch block \| 1 C0003873 \| rheumatoid arthritis \| 1 C0022735 \| klinefelter syndrome \| 1 C0006271 \| bronchiolitis \| 1 C0037199 \| sinusitis \| 1 C0878544 \| cardiomyopathy \| 1 C0027051 \| myocardial infarct \| 1 C0206623 \| adenosquamous carcinoma \| 1 C0021364 \| male infertility \| 1 C0027051 \| myocardial infarction \| 1 C0684249 \| carcinoma of the lung \| 1 C0007137 \| squamous cell carcinoma \| 1 C0024115 \| lung disease \| 1 C0002736 \| amyotrophic lateral sclerosis \| 1 C0007137 \| squamous carcinoma \| 1 C0149782 \| squamous cell carcinoma of the lung \| 1 C0005411 \| biliary atresia \| 1 C0024115 \| pulmonary disease \| 1 C0085615 \| right bundle branch block \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:28) 51364 \| ZMYND10 \| CLINVAR 83544 \| DNAL1 \| CLINVAR 83861 \| RSPH3 \| CLINVAR 89765 \| RSPH1 \| CLINVAR 221421 \| RSPH9 \| CLINVAR 23639 \| LRRC6 \| CLINVAR 352909 \| DNAAF3 \| CLINVAR;CTD_human 161582 \| DYX1C1 \| CTD_human 345895 \| RSPH4A \| CLINVAR 54768 \| HYDIN \| CLINVAR 388389 \| CCDC103 \| CLINVAR 10309 \| CCNO \| CLINVAR 1767 \| DNAH5 \| CLINVAR;UNIPROT 93233 \| CCDC114 \| CLINVAR 55130 \| ARMC4 \| CLINVAR 85478 \| CCDC65 \| CLINVAR 55036 \| CCDC40 \| CTD_human 123872 \| DNAAF1 \| CLINVAR 1769 \| DNAH8 \| CLINVAR 25981 \| DNAH1 \| CLINVAR 56683 \| C21orf59 \| CLINVAR 55172 \| DNAAF2 \| CLINVAR 6674 \| SPAG1 \| CLINVAR 92749 \| DRC1 \| CLINVAR;CTD_human 345643 \| MCIDAS \| CLINVAR 64446 \| DNAI2 \| CLINVAR 27019 \| DNAI1 \| CLINVAR;CTD_human;UNIPROT 115948 \| CCDC151 \| CLINVAR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 1767 \| DNAH5 \| CIPHER 92749 \| DRC1 \| CTD_human 352909 \| DNAAF3 \| CTD_human 161582 \| DYX1C1 \| CTD_human 27019 \| DNAI1 \| CTD_human 55036 \| CCDC40 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:15) 339829 \| CCDC39 \| 4.299 \| DISEASES 55036 \| CCDC40 \| 3.538 \| DISEASES 8701 \| DNAH11 \| 5.743 \| DISEASES 2318 \| FLNC \| 1.33 \| DISEASES 2302 \| FOXJ1 \| 3.823 \| DISEASES 22920 \| KIFAP3 \| 3.591 \| DISEASES 7044 \| LEFTY2 \| 2.802 \| DISEASES 727897 \| MUC5B \| 3.41 \| DISEASES 83695 \| RHNO1 \| 2.239 \| DISEASES 6103 \| RPGR \| 1.897 \| DISEASES 5270 \| SERPINE2 \| 4.031 \| DISEASES 6648 \| SOD2 \| 1.493 \| DISEASES 79582 \| SPAG16 \| 3.371 \| DISEASES 6991 \| TCTE3 \| 4.276 \| DISEASES 51366 \| UBR5 \| 2.207 \| DISEASES
Locus	(Waiting for update.)

Disease ID	621
Disease	kartagener syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:17) HP:0000789 \| Infertility \| 3 HP:0000097 \| focal glomerulosclerosis \| 2 HP:0002110 \| Bronchiectasis \| 2 HP:0030731 \| Carcinoma \| 2 HP:0100790 \| Hernia \| 1 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0011710 \| Bundle-branch block \| 1 HP:0011950 \| Bronchiolitis \| 1 HP:0005912 \| Biliary duct atresia \| 1 HP:0000246 \| Sinus inflammation \| 1 HP:0003251 \| Male infertility \| 1 HP:0011109 \| Chronic sinusitis \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0011712 \| Right bundle-branch block \| 1 HP:0100582 \| Nasal polyps \| 1 HP:0007354 \| Amyotrophic lateral sclerosis \| 1

Disease ID	621
Disease	kartagener syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C1963083 \| cholecystitis C0268382 \| renal amyloidosis C0041408 \| turner syndrome C0041327 \| pulmonary tuberculosis C0024110 \| lung abscess C0010674 \| cystic fibrosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0021359 \| infertility \| 3 C0006271 \| bronchiolitis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:61)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137853191	NA	55172	DNAAF2	umls:C0022521	CLINVAR	NA	0.12	NA	DNAAF2	14	49635127	G	T,A
rs138320978	NA	89765	RSPH1	umls:C0022521	CLINVAR	NA	0.121357209	NA	RSPH1	21	42493049	C	A,T
rs138815960	NA	51364	ZMYND10	umls:C0022521	CLINVAR	NA	0.120542884	NA	ZMYND10	3	50345533	A	C
rs142371860	NA	92749	DRC1	umls:C0022521	CLINVAR	NA	0.240271442	NA	DRC1	2	26421396	C	A,T
rs142800871	NA	83861	RSPH3	umls:C0022521	CLINVAR	NA	0.120271442	NA	RSPH3	6	158986423	T	C
rs143740376	NA	56683	C21orf59	umls:C0022521	CLINVAR	NA	0.120271442	NA	C21orf59	21	32609853	G	A
rs145457535	NA	388389	CCDC103	umls:C0022521	CLINVAR	NA	0.120542884	NA	CCDC103	17	44902549	A	C
rs145457535	26123568	388389	CCDC103	umls:C0022521	BeFree	Exome sequencing identified a homozygous missense variant in CCDC103 (c.461A > C; p.His154Pro) as the most likely cause of the PCD and laterality defects in this family.	0.120542884	2015	CCDC103	17	44902549	A	C
rs145742175	NA	55130	ARMC4	umls:C0022521	CLINVAR	NA	0.120542884	NA	ARMC4	10	27944296	C	A,T
rs147718607	NA	93233	CCDC114	umls:C0022521	CLINVAR	NA	0.120542884	NA	CCDC114	19	48303953	C	T
rs151107532	NA	89765	RSPH1	umls:C0022521	CLINVAR	NA	0.121357209	NA	RSPH1	21	42486463	T	G
rs200382776	NA	89765	RSPH1	umls:C0022521	CLINVAR	NA	0.121357209	NA	RSPH1	21	42477286	C	T
rs200913791	NA	51364	ZMYND10	umls:C0022521	CLINVAR	NA	0.120542884	NA	RASSF1;ZMYND10	3	50342473	A	G
rs201740530	NA	6674	SPAG1	umls:C0022521	CLINVAR	NA	0.120271442	NA	SPAG1	8	100233436	C	T
rs202094637	NA	56683	C21orf59	umls:C0022521	CLINVAR	NA	0.120271442	NA	C21orf59	21	32602299	G	A,C
rs267607227	NA	123872	DNAAF1	umls:C0022521	CLINVAR	NA	0.120814326	NA	DNAAF1	16	84154748	T	G
rs375453508	24911457	5554	PRH1	umls:C0022521	BeFree	Heterozygous F139V mutations of PRO caused mild reduction of protein C function, which might be the reason for survival of compound heterozygous or homozygous PCD with F139V in adults.	0.000542884	2015	PRH1;TAS2R14;PRH1-PRR4;PRH1-TAS2R14	12	10938793	C	A
rs376252276	NA	27019	DNAI1	umls:C0022521	CLINVAR	NA	0.44643866	NA	DNAI1	9	34513112	G	A
rs387907021	NA	83544	DNAL1	umls:C0022521	CLINVAR	NA	0.122995792	NA	DNAL1	14	73689432	A	G
rs387907151	NA	352909	DNAAF3	umls:C0022521	CLINVAR	NA	0.241085767	NA	DNAAF3;LOC101930593	19	55165904	A	G
rs387907152	NA	352909	DNAAF3	umls:C0022521	CLINVAR	NA	0.241085767	NA	DNAAF3;LOC101930593	19	55165427	G	A
rs397515339	NA	123872	DNAAF1	umls:C0022521	CLINVAR	NA	0.120814326	NA	DNAAF1	16	84170177	-	C
rs397515340	NA	221421	RSPH9	umls:C0022521	CLINVAR	NA	0.121357209	NA	MRPS18A;RSPH9	6	43670919	GAA	-
rs397515341	NA	55172	DNAAF2	umls:C0022521	CLINVAR	NA	0.12	NA	DNAAF2	14	49633935	-	GCCACGCAGGTATCGT
rs397515358	NA	64446	DNAI2	umls:C0022521	CLINVAR	NA	0.123810118	NA	DNAI2	17	74286974	T	G
rs397515363	NA	27019	DNAI1	umls:C0022521	CLINVAR	NA	0.44643866	NA	DNAI1;FAM219A	9	34459055	-	T
rs397515395	NA	352909	DNAAF3	umls:C0022521	CLINVAR	NA	0.241085767	NA	DNAAF3;LOC101930593	19	55161684	-	A
rs397515413	NA	54768	HYDIN	umls:C0022521	CLINVAR	NA	0.120271442	NA	HYDIN	16	70988133	C	A
rs397515414	NA	54768	HYDIN	umls:C0022521	CLINVAR	NA	0.120271442	NA	HYDIN	16	71137272	T	A
rs397515540	23477994	1767	DNAH5	umls:C0022521	BeFree	Children with PCD from an Amish family from Wisconsin had biallelic DNAH5 mutations, c.4348C>T (p.Q1450X) and c.10815delT (p.P3606HfsX23), and mutations in other genes associated with PCD were also identified in this community.	0.252344368	2013	DNAH5	5	13753290	A	-
rs397515563	NA	27019	DNAI1	umls:C0022521	CLINVAR	NA	0.44643866	NA	DNAI1	9	34517468	G	A
rs397515565	NA	64446	DNAI2	umls:C0022521	CLINVAR	NA	0.123810118	NA	DNAI2	17	74310164	G	C,T
rs398122401	NA	56683	C21orf59	umls:C0022521	CLINVAR	NA	0.120271442	NA	C21orf59	21	32601941	TAAA	-
rs544674332	NA	25981	DNAH1	umls:C0022521	CLINVAR	NA	0.120814326	NA	DNAH1	3	52353613	A	C
rs567050969	NA	1769	DNAH8	umls:C0022521	CLINVAR	NA	0.12	NA	DNAH8	6	38786788	C	T
rs587776910	NA	388389	CCDC103	umls:C0022521	CLINVAR	NA	0.120542884	NA	CCDC103	17	44902471	-	G
rs587776997	NA	92749	DRC1	umls:C0022521	CLINVAR	NA	0.240271442	NA	DRC1	2	26454783	A	T
rs587777047	NA	55130	ARMC4	umls:C0022521	CLINVAR	NA	0.120542884	NA	ARMC4	10	27862453	A	C
rs587777058	NA	89765	RSPH1	umls:C0022521	CLINVAR	NA	0.121357209	NA	RSPH1	21	42485807	G	T
rs587777059	NA	89765	RSPH1	umls:C0022521	CLINVAR	NA	0.121357209	NA	RSPH1	21	42485760	TACT	-
rs587777498	NA	10309	CCNO	umls:C0022521	CLINVAR	NA	0.120271442	NA	CCNO	5	55233276	-	GGGCA
rs587777499	NA	10309	CCNO	umls:C0022521	CLINVAR	NA	0.120271442	NA	CCNO	5	55233266	-	GGGCC
rs587777500	NA	10309	CCNO	umls:C0022521	CLINVAR	NA	0.120271442	NA	CCNO	5	55231502	G	-
rs587777501	NA	10309	CCNO	umls:C0022521	CLINVAR	NA	0.120271442	NA	CCNO	5	55231467	G	A
rs587777502	NA	10309	CCNO	umls:C0022521	CLINVAR	NA	0.120271442	NA	CCNO	5	55233261	-	GGGCC,GGGCT
rs587777503	NA	10309	CCNO	umls:C0022521	CLINVAR	NA	0.120271442	NA	CCNO	5	55232446	AG	-
rs587777779	NA	115948	CCDC151	umls:C0022521	CLINVAR	NA	0.120542884	NA	CCDC151	19	11426182	C	A
rs587777780	NA	115948	CCDC151	umls:C0022521	CLINVAR	NA	0.120542884	NA	CCDC151	19	11422722	G	T
rs606231164	NA	27019	DNAI1	umls:C0022521	CLINVAR	NA	0.44643866	NA	DNAI1	9	34489343	-	AATA
rs606231165	NA	27019	DNAI1	umls:C0022521	CLINVAR	NA	0.44643866	NA	DNAI1	9	34514482	CCAAGGTCTTCA	-
rs760123202	NA	23639	LRRC6	umls:C0022521	CLINVAR	NA	0.121085767	NA	LRRC6	8	132632763	C	-
rs771663107	NA	1767	DNAH5	umls:C0022521	CLINVAR	NA	0.252344368	NA	DNAH5	5	13865675	G	A
rs777031813	NA	345643	MCIDAS	umls:C0022521	CLINVAR	NA	0.12	NA	MCIDAS	5	55222341	G	T
rs797045146	NA	55172	DNAAF2	umls:C0022521	CLINVAR	NA	0.12	NA	DNAAF2	14	49635119	C	-
rs797045147	NA	345895	RSPH4A	umls:C0022521	CLINVAR	NA	0.121085767	NA	RSPH4A	6	116616789	-	C
rs797045148	NA	89765	RSPH1	umls:C0022521	CLINVAR	NA	0.121357209	NA	RSPH1	21	42485804	C	T
rs797045149	NA	6674	SPAG1	umls:C0022521	CLINVAR	NA	0.120271442	NA	SPAG1	8	100191459	AAGTA	-
rs797045150	NA	10309	CCNO	umls:C0022521	CLINVAR	NA	0.120271442	NA	CCNO	5	55231712	T	C
rs797045151	NA	345643	MCIDAS	umls:C0022521	CLINVAR	NA	0.12	NA	MCIDAS	5	55220427	C	T
rs797045152	NA	345643	MCIDAS	umls:C0022521	CLINVAR	NA	0.12	NA	MCIDAS	5	55220382	C	T
rs79833450	NA	27019	DNAI1	umls:C0022521	CLINVAR	NA	0.44643866	NA	DNAI1	9	34513165	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	621
Disease	kartagener syndrome
Case	(Waiting for update.)